E-LIB Suche - Ergebnisse für: Lehman, April

1

P025: Characterization of a silent variant in a neonate wit..:

Mori, Mari ; Lehman, April ; Marr, Mackenzie..
Genetics in Medicine Open. 2 (2024) - p. 100902 , 2024

Link: https://doi.org/10.1016/..

2

RETROSPECTIVE EVALUATION OF SPECIFIC AMINO ACID RATIOS FOR ..:

Lehman, April ; Verma, Anisha ; Cropcho, Lorna...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107443 , 2023

Link: https://doi.org/10.1016/..

3

P330: Gabriele-de Vries syndrome: Exploring the phenotype o..:

Asato, Mariane Tomiyoshi ; Lehman, April ; Pappas, Kara.
Genetics in Medicine Open. 1 (2023) 1 - p. 100358 , 2023

Link: https://doi.org/10.1016/..

4

Clinical, biochemical and molecular characterization of 12 ..:

Lasio, M. Laura Duque ; Leshinski, Angela C. ; Ducich, Nicole H....
Molecular Genetics and Metabolism. 139 (2023) 2 - p. 107605 , 2023

Link: https://doi.org/10.1016/..

5

P039: Retrospective evaluation of amino acid ratios for scr..:

Verma, Anisha ; Lehman, April ; Cropcho, Lorna...
Genetics in Medicine Open. 1 (2023) 1 - p. 100049 , 2023

Link: https://doi.org/10.1016/..

6

Breaking Barriers to Rapid Whole Genome Sequencing in Pedia..:

Bupp, Caleb P. ; Ames, Elizabeth G. ; Arenchild, Madison K....
Children. 10 (2023) 1 - p. 106 , 2023

Link: https://doi.org/10.3390/..

7

Missense MED12 variants in 22 males with intellectual disab..:

Maia, Nuno ; Ibarluzea, Nekane ; Misra‐Isrie, Mala...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 135-143 , 2022

Link: https://doi.org/10.1002/..

8

Outcomes of in-house rapid genome sequencing at a Children'..:

Chaudhari, Bimal ; Cottrell, Catherine ; Magrini, Vincent...
Molecular Genetics and Metabolism. 132 (2021) - p. S165-S166 , 2021

Link: https://doi.org/10.1016/..

9

Utility of specific amino acid ratios in screening for pyru..:

Bedoyan, Jirair ; Hage, Rosemary ; Shin, Ha Kyung...
Molecular Genetics and Metabolism. 132 (2021) - p. S6-S7 , 2021

Link: https://doi.org/10.1016/..

10

Delivering a new diagnosis of Down syndrome: Parent experie..:

Lehman, April ; Leach, Mark ; Santoro, Stephanie L.
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3615-3622 , 2021

Link: https://doi.org/10.1002/..

11

Utility of specific amino acid ratios in screening for pyru..:

Bedoyan, Jirair K. ; Hage, Rosemary ; Shin, Ha Kyung...
JIMD Reports. 56 (2020) 1 - p. 70-81 , 2020

Link: https://doi.org/10.1002/..

12

Multiple-signal duplicate detection for search evaluation:

, In: Proceedings of the 30th annual international ACM SIGIR conference on Research and development in information retrieval,

Huffman, Scott ; Lehman, April ; Stolboushkin, Alexei... - p. 223-230 , 2007

Link: https://dl.acm.org/doi/1..

13

Amino acid ratio combinations as biomarkers for discriminat..:

Verma, Anisha ; Lehman, April N. ; Gokcan, Hatice...
Molecular Genetics & Genomic Medicine. 12 (2023) 1 - p. , 2023

Link: https://doi.org/10.1002/..

14

SURVIVAL OF LETHAL NEONATAL CPT-II DEFICIENCY WITH HIGH DOS..:

Pomerantz, Daniel J. ; Rush, Peggy ; Wagner, Laura...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 293-294 , 2022

Link: https://doi.org/10.1016/..

15

Playing games in many possible worlds:

, In: Proceedings of the 7th ACM conference on Electronic commerce,

Lepinski, Matt ; Liben-Nowell, David ; Gilbert, Seth. - p. 150-159 , 2006

Link: https://dl.acm.org/doi/1..